A5114250020- Epilepsy research and treatment
- RNA regulation and disease
- Neonatal and fetal brain pathology
- Mitochondrial Function and Pathology
- Cell Adhesion Molecules Research
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- Autoimmune Neurological Disorders and Treatments
- Neurological disorders and treatments
- Diet and metabolism studies
- Cerebrovascular and genetic disorders
- Neurological and metabolic disorders
- Obstructive Sleep Apnea Research
- ATP Synthase and ATPases Research
- DNA Repair Mechanisms
- Neuroscience of respiration and sleep
- RNA and protein synthesis mechanisms
- Genetics and Neurodevelopmental Disorders
- Neurological Disease Mechanisms and Treatments
- Radiopharmaceutical Chemistry and Applications
- Advanced biosensing and bioanalysis techniques
- Nuclear Receptors and Signaling
- Neurological diseases and metabolism
- Telomeres, Telomerase, and Senescence
- Herbal Medicine Research Studies
New York City Department of Health and Mental Hygiene
2025
University Hospital Southampton NHS Foundation Trust
2012-2023
Southampton Children's Hospital
2020-2021
Harvard University
2018
Oxford University Hospitals NHS Trust
2018
King's College London
2018
Southampton General Hospital
2013-2014
Boston Children's Hospital
2014
University of Southampton
2011-2012
Great Ormond Street Hospital
2008
To conduct the first randomized trial on classical and medium-chain triglyceride (MCT) versions of ketogenic diet, examining efficacy tolerability after 3, 6, 12 months.One hundred forty-five children with intractable epilepsy were to receive a or an MCT diet. Seizure frequency was assessed months. Treatment withdrawals documented. Tolerability by questionnaire, blood ketone levels measured.Of 61 who started diet 64 data from 94 available for analysis: 45 49 MCT. After months there no...
Summary Purpose: Most published data on infants presenting with epilepsy originate from hospital/specialist clinic settings and may therefore not be representative of the general population. We carried out a population‐based study to estimate incidence onset in infants, characterize range phenotypes associated structural brain abnormalities, determine whether specific diagnoses could established at onset. Methods: Children between 1 24 months age new‐onset were ascertained over 13 residents...
Please note that sleep-disordered breathing (SDB) in children without comorbidities is related to snoring and upper airway obstruction commonly referred as obstructive sleep apnoea (OSA). ### Diagnosing with suspected #### Sleep questionnaires, combined questionnaires 'protocol-driven' clinical assessments, video recordings audio ##### Children ###### Recommendations Good practice points point Pulse oximetry CRSS Recommendation
Abstract Maternal morbidity and mortality in the United States is an urgent public health issue, there are stark differences by race ethnicity. Community-based doula care evidence-based strategy to improve maternal through accompaniment, engagement, addressing social needs, promoting respectful care. Yet, a gap access for people who low-income or publicly insured, due cost availability. New York has recently joined growing number of states providing Medicaid coverage services. There many...
<b>Objective</b> With the identification of mutations in conserved telomere maintenance component 1 (<i>CTC1</i>) gene as cause Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. <b>Patients Methods</b> A total 15 patients LCC were identified from our database intracranial calcification. The clinical radiological features are described. <b>Results</b> median age (range) at presentation was 10 months...
We aimed to investigate the relationship between movement disorders, changes on brain magnetic resonance imaging (MRI), and vigabatrin therapy in children with infantile spasms.Retrospective review MRI analysis of enrolled International Collaborative Infantile Spasms Study (ICISS) who developed a disorder therapy. Comparisons were made controls within ICISS had no disorder.Ten 124 infants eight it Two that resolved dose-reduction vigabatrin, one improvement withdrawing two resolution without...
We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse sequencing data from affected grandmother-granddaughter pair. Whole-exome identified 18,000 shared variants, of which 46 were non-synonymous changes not present local cohort control exomes (n = 422). Further filtering based on predicted splicing effect, minor allele...
Abstract The vacuolar H+-ATPase is an enzymatic complex that functions in ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking by several different types of transporters. We describe heterozygous point variants ATP6V0C, encoding c-subunit bound integral domain H+-ATPase, 27 patients with neurodevelopmental abnormalities or without epilepsy. Corpus callosum hypoplasia cardiac were also present...
Catastrophic epileptic encephalopathy of unclear etiology following a mild metabolic insult generally has poor outcome. Here, we present 2 such unrelated individuals in whom whole-exome sequencing identified the same de novo recurrent mutation (c.1207C>T p.Arg403Cys) gene encoding guanosine triphosphatase (GTPase) Dynamin-1 like Protein (DNM1L) (reference sequence NM_012062.4).
Abstract Biallelic mutations in SNORD118 , encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given difficulty interpreting functional consequences of variants nonprotein genes, high allelic polymorphism across controls, we set out to provide a description molecular pathology clinical spectrum observed cohort patients LCC. We identified 64 affected individuals from 56 families. Age at presentation varied 3 weeks 67 years, disease onset after...
Onset of epilepsy before 2 years age is associated with poor cognitive outcome; however, the natural course range epilepsies that occur at this unknown. The aim prospective community-based study was to investigate neuropsychological development infants newly diagnosed longitudinally and identify clinical factors predict long-term impairment.Sixty-six <24 months were enrolled in baseline phase study; 40 seen again 1-year follow-up 3-year follow-up. Children underwent a neurological assessment...
Infantile spinocerebellar ataxia type 7 ( SCA7 ) is phenotypically different from the child‐onset and adult‐onset cases, presenting as a multisystem disorder associated with pathologically large CAG trinucleotide repeat sequences. We describe case study of male who presented at 5 months age marked motor delay, failure to thrive, patent ductus arteriosus. He later developed renal uncertain aetiology. The infant became progressively hypotonic, cardiac function deteriorated further; he died 11...
Interrater reliability as measured by the kappa (κ) statistic is a widely used and valuable tool to measure robustness of scoring system. Seizure frequency reduction central outcome following vagus nerve stimulation (VNS). A specific VNS system has been proposed McHugh, but its interrater not tested. The authors assessed compared it with that Engel International League Against Epilepsy (ILAE) systems.Using Engel, ILAE, McHugh systems, 3 observers independently rated medical records children...
A 10-year-old girl presented with signs and symptoms suggestive of Gradenigo's syndrome, a condition characterised by otorrhoea, diplopia due to abducens nerve palsy pain in the region trigeminal nerve. This case examines presentation this condition, appropriate investigations. We also highlight importance involvement multiple specialities discussing devising suitable management plan.
Background Intrathecal baclofen (ITB) is a useful treatment for hypertonia where non-invasive treatments have been ineffective or poorly tolerated. There an absence of national guidance on selection criteria and lack literature regarding patient characteristics details children young people (CYP) receiving ITB therapy in the UK Ireland. We aimed to gather CYP Methods An electronic survey was sent all paediatric centres Anonymised data were returned between December 2019 April 2020. >16...